本哈大学医院随机样本TNFα-308 （G>A）基因多态性在复发性妊娠丢失中的作用研究

IF 0.9 Q4 GENETICS & HEREDITY

Gene Reports Pub Date : 2025-08-12 DOI:10.1016/j.genrep.2025.102320

Osama Saad Al Shaer , Eman Ramadan Abd El Gwad , Dalia Mohamed Abd E.L. Hassib , Omar Khaled Naser , Walaa Afifi Nasr Afifi , Amira Osama Abd El-Ghaffar

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引用次数: 0

摘要

背景：复发性妊娠丢失（RPL）仍然是一个重大的临床和情感挑战。尽管生殖医学取得了进步，但RPL的根本原因有时是难以捉摸的，遗传因素现在越来越被认为是重要的因素。其中，肿瘤坏死因子-α (TNF-α)基因的单核苷酸多态性（SNP） rs1800629被认为是影响RPL易感性的潜在因素。目的本病例对照研究旨在探讨TNF-α - 308 G >；埃及Benha大学医院的RPL SNP。科目,方法共纳入190名受试者（90名RPL女性和100名健康对照）。TNF-α - 308 G >的基因分型采用限制性片段长度多态性-聚合酶链反应（PCR-RFLP）技术与NcoI限制性内切酶进行SNP检测。结果RPL女性中GA和AA基因型的发生率明显高于对照组，其中AA基因型的风险最高（OR = 3.75, 95% CI: 1.17-12.05, p = 0.027）。优势模型（GA + AA）也与RPL有很强的相关性（OR = 2.06, 95% CI: 1.35 ~ 3.12, p = 0.001）。A等位基因被确定为显著危险因素(OR = 2.01, 95% CI: 1.39-2.90, p <；0.001)。结论TNF-α - 308 G >；多态性似乎与对RPL的易感性增加有关。需要更大的、多种族的研究来进一步证实这些结果，并澄清基因对RPL的影响。

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A study of the role of TNFα-308 (G>A) gene polymorphism in recurrent pregnancy loss in random sample from Benha University Hospital

Background

Recurrent pregnancy loss (RPL) remains a significant clinical and emotional challenge. Despite advances in reproductive medicine, the underlying causes of RPL are sometimes elusive, with genetic factors now increasingly recognized as important contributors. Among these, the single-nucleotide polymorphism (SNP) rs1800629 in the tumor necrosis factor-alpha (TNF-α) gene has emerged as a potential factor influencing susceptibility to RPL.

Aim

This case-control study intended to examine the association of TNF-α − 308 G > A SNP with RPL in Benha University Hospital, Egypt.

Subjects & methods

A total of 190 participants (90 women with RPL and 100 healthy controls) were involved. Genotyping of the TNF-α − 308 G > A SNP was performed using the restriction fragment length polymorphism-polymerase chain reaction (PCR-RFLP) technique with the NcoI restriction endonuclease.

Results

The frequency of GA and AA genotypes were considerably higher in the RPL females compared to controls, with the AA genotype conferring the highest risk (OR = 3.75, 95 % CI: 1.17–12.05, p = 0.027). The dominant model (GA + AA) also showed a strong association with RPL (OR = 2.06, 95 % CI: 1.35–3.12, p = 0.001). The A allele was identified as a significant risk factor (OR = 2.01, 95 % CI: 1.39–2.90, p < 0.001).

Conclusion

The TNF-α − 308 G > A polymorphism appears to be linked to increased susceptibility to RPL. Larger, multi-ethnic studies are required to further confirm these outcomes and to clarify the genetic contribution to RPL.

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来源期刊

Gene Reports Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

3.30

自引率

7.70%

发文量

246

审稿时长

49 days

期刊介绍： Gene Reports publishes papers that focus on the regulation, expression, function and evolution of genes in all biological contexts, including all prokaryotic and eukaryotic organisms, as well as viruses. Gene Reports strives to be a very diverse journal and topics in all fields will be considered for publication. Although not limited to the following, some general topics include: DNA Organization, Replication & Evolution -Focus on genomic DNA (chromosomal organization, comparative genomics, DNA replication, DNA repair, mobile DNA, mitochondrial DNA, chloroplast DNA). Expression & Function - Focus on functional RNAs (microRNAs, tRNAs, rRNAs, mRNA splicing, alternative polyadenylation) Regulation - Focus on processes that mediate gene-read out (epigenetics, chromatin, histone code, transcription, translation, protein degradation). Cell Signaling - Focus on mechanisms that control information flow into the nucleus to control gene expression (kinase and phosphatase pathways controlled by extra-cellular ligands, Wnt, Notch, TGFbeta/BMPs, FGFs, IGFs etc.) Profiling of gene expression and genetic variation - Focus on high throughput approaches (e.g., DeepSeq, ChIP-Seq, Affymetrix microarrays, proteomics) that define gene regulatory circuitry, molecular pathways and protein/protein networks. Genetics - Focus on development in model organisms (e.g., mouse, frog, fruit fly, worm), human genetic variation, population genetics, as well as agricultural and veterinary genetics. Molecular Pathology & Regenerative Medicine - Focus on the deregulation of molecular processes in human diseases and mechanisms supporting regeneration of tissues through pluripotent or multipotent stem cells.